title: MEFV, TNFRSF1A and CARD15 mutation analysis in Behçet's disease.
abstract: OBJECTIVE
  Given the pathological similarities between Behçet's disease (BD), Familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS) and Crohn's disease (CD) we evaluated the frequency of mutations and polymorphisms in MEFV, TNFRSF1A and CARD15 in Israeli BD patients of either Jewish or Arab descent.
  
  
  METHODS
  Fifty-four BD patients (11 Jews and 43 Arabs), evaluated with respect to the entire spectrum of BD disease manifestations, were granted a systemic severity score for BD. An association between BD manifestations and MEFV, TNFRSF1A and CARD15 variants was analysed.
  
  
  RESULTS
  Twelve patients (20.7%) displayed a single MEFV mutation and four patients (7.4%) had two mutated FMF alleles. Two patients (3.8%) carried a CARD15 variation and none carried a TNFRSF1A polymorphism. The frequency and distribution of mutated alleles between patients and controls was comparable (p=0.27). No statistically significant differences between carriers and non-carriers with respect to disease manifestations and severity score were calculated. Arab patients were diagnosed earlier than Jewish patients (25.8±11.6 and 37.2±10.7, respectively, p=0.06).
  
  
  CONCLUSIONS
  The overall MEFV high carrier frequency in our cohort of BD patients seems to be attributed to their Mediterranean extraction rather than related to BD. The propensity of Arab patients (79.6%) in a cohort of BD patients from northern Israel is highlighted in face of their proportion (20%) in the general population lending further support to arguments that favour a genetic component for BD.
authors.affiliation: Department of Clinical Medicine, University of La Sapienza, Rome, Italy. yoavi100@gmail.com
authors.forename: Yoav
authors.initials: Y
authors.lastname: Baruch
authors.forename: Efrat
authors.initials: E
authors.lastname: Dagan
authors.forename: Itzhak
authors.initials: I
authors.lastname: Rosner
authors.forename: Massimo
authors.initials: M
authors.lastname: Fiorilli
authors.forename: Ruth
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: Michael
authors.initials: M
authors.lastname: Rozenbaum
mesh_terms: D000293:Adolescent; D000328:Adult; D018912:Arabs / Q000235:genetics / Q000706:statistics & numerical data; D001528:Behcet Syndrome / Q000208:ethnology* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007557:Israel / Q000453:epidemiology; D007585:Jews / Q000235:genetics / Q000706:statistics & numerical data; D008297:Male; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D011110:Polymorphism, Genetic; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human